R41S (p.Arg41Ser) variant of LMNA (Prelamin-A/C)
R41S (p.Arg41Ser) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- rs1572332164
- ClinGen CA342807733
- ClinVar RCV000803355
- ClinVar RCV003133634
- Conflicting interpretations
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)